Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin.
D000293:Adolescent; D002478:Cells, Cultured; D003094:Collagen / Q000378:metabolism; D024061:Collagen Type III / Q000235:genetics*; D024062:Collagen Type V / Q000235:genetics*; D015536:Down-Regulation; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000473:pathology*; D005109:Extracellular Matrix / Q000737:chemistry*; D005347:Fibroblasts / Q000737:chemistry / Q000378:metabolism*; D005353:Fibronectins / Q000378:metabolism; D006801:Humans; D038982:Integrin alpha2beta1 / Q000096:biosynthesis / Q000378:metabolism; D039081:Integrin alpha5beta1 / Q000096:biosynthesis / Q000378:metabolism; D039302:Integrin alphaVbeta3 / Q000096:biosynthesis / Q000378:metabolism; D016023:Integrins / Q000096:biosynthesis* / Q000378:metabolism; D009154:Mutation
C439971:COL3A1 protein, human; D024061:Collagen Type III; D024062:Collagen Type V; D005353:Fibronectins; D038982:Integrin alpha2beta1; D039081:Integrin alpha5beta1; D039302:Integrin alphaVbeta3; D016023:Integrins; D003094:Collagen